IKBKGMutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy

Abstract

Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linked dominant genodermatosis affecting skin and other organs, including the brain, with variable expressivity. Incontinentia pigmenti results from mutations in the inhibitor of κ-βkinase-γ gene (IKBKG), which is located on Xq28. Deletions in this gene result in loss of function, leading to a wide variety of manifestations. 1 This mutation is often lethal in males, resulting in miscarriage of male fetuses. Previously proposed revised diagnostic criteria 2 included as major criteria any of 4 types of IP skin lesions and several minor criteria including anomalies of the brain, eyes, oral cavity, breasts, nipples, hair, and nails in a typical context of multiple male miscarriages and characteristic skin histopathology findings.

A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus

“…Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is an uncommon neurocutaneous disorder, with an incidence of 0.7 per 100,000 live births. 1 , 2 IP is a genetic disorder resulting from mutations in the gene encoding inhibitor of kappa-B kinase gamma (IKBKG), a protein that activates nuclear factor kappa B (NF-κB) essential modulator (NEMO). 3 Because of its X-linked dominant inheritance pattern, IP predominantly (i.e., in 95% of cases) affects female infants.…”